Úvod: Juvenilná dermatomyozitída (JDM) a juvenilná polymyozitída (JPM) patria medzi idiopatické zápalové myopatie (IIM). Sú to zriedkavé a prognosticky závažné ochorenia, ich diagnostika a liečba sa sústreďuje v špecializovaných centrách. Cieľ: Retrospektívne analýzovať pacientov s IIM sledovaných v dvoch centrách pre detskú reumatológiu v Čechách a na Slovensku. Metódy: Z elektronickej a písomnej zdravotníckej dokumentácie sme získali demografické a klinické údaje pacientov s IIM sledovaných v rokoch 2005-2013 v Centre dětské revmatologie a autoinflamatorních onemocnění KDDL 1. LF UK a VFN v Prahe a pacientov sledovaných v Reumatologickej ambulancii DK LFUK a NÚDCH v Bratislave v rokoch 2014-2018. Pri rutinných kontrolách sme hodnotili ich aktuálny zdravotný a funkčný stav validovanými nástrojmi (MMT8, CMAS, VAS, CHAQ). Získané údaje sme retrospektívne analyzovali. Výsledky: Zaradili sme 25 detí s IIM. Na českom pracovisku sme identifikovali 17 pacientov (12 dievčat, 5 chlapcov, 15 JDM, 2 JPM). 14 bolo naďalej dispenzarizovaných. Všetci ôsmi slovenskí pacienti (všetko dievčatá, 7 JDM, 1 JPM) boli v čase zaradenia dispenzarizovaní. V českom súbore bola diagnóza potvrdená vo veku 7,7 (1,2-15,8) rokov, slovenskí pacienti boli málo mladší: 6,8 (1,1-15,0) rokov. V celom súbore boli svalové (95 %) a kožné (88 %, 100 % pri JDM) prejavy najčastejšie, nasledované systémovými (68 %) a kĺbovými príznakmi (28 %). Aspoň jeden svalový enzým (AST, ALT, LD alebo CK) bol zvýšený u 72 % pacientov, u 24 % len mierne (do 2-3 násobku normy). Ako prínosné sa ukázali magnetická rezonancia svalov (senzitivita 80 %) a kapilaroskopické vyšetrenie nechtového lôžka (senzitivita 87 %). Všetci pacienti užívali kortikoidy (100 %) a väčšina metotrexát (96 %) s dobrými výsledkami: svalová sila bola významne zlepšená, kvalita života bola vyhovujúca a trvalé poškodenie mierne. U nezanedbateľného počtu pacientov sa vyvinuli dlhodobé komplikácie: lipoatrofia (n = 8), kontraktúry (n = 8), kalcinóza (n = 10), znížený rast (n = 6). Počas sledovaného obdobia (medián 3,3 rokov, 0,2-12) žiadne dieťa nezomrelo. V slovenskom súbore sme zaznamenali deti s väčším oneskorením stanovenia diagnózy (medián 0,5; 0,1-9,0 rokov vs. medián 0,3; 0,1-1,5 u českých detí). Záver: Demografické charakteristiky, klinický obraz, používaná liečba ako aj jej výsledky u českých a slovenských detí s JDM alebo JPM sú porovnateľné s údajmi z literatúry. Napriek adekvátnej liečbe sú komplikácie časté. Na tom sa môže podieľať aj oneskorenie stanovenia diagnózy.

Introduction: Juvenile dermatomyositis (JDM) and juvenile polymyositis (JPM), both idiopathic inflammatory myopathies (IIM), are rare diseases with a potentially severe prognosis. Diagnosis and care for patients suffering from IIMs is concentrated in specialized centres. Aim: To retrospectively analyze a cohort of paediatric patients with JDM and JPM followed in two paediatric rheumatology centres in the Czech and Slovak Republics. Methods: Patients with JDM and JPM followed at the Centre for paediatric rheumatology and autoinflammatory diseases of the Department of Paediatrics and Adolescent Medicine, General University Hospital in Prague in the years 2005-2013 and at the Rhematology Clinic of the Department of Paediatrics, Comenius University Medical School and National Institute of Children´s Diseases in Bratislava in the years 2014-2018 were included. Demographic and clinical data were extracted from electronic and paper medical records. During routine follow-up visits, health and functional status were assessed using validated tools (MMT8, CMAS, VAS, CHAQ). Acquired data were analyzed retrospectively. Results: Altogether, 25 children with IIM were included. At the Czech centre, we identified 17 patients (12 female, 5 male) with IIM (15 JDM, 2 JPM), of whom 14 were still being followed-up at the time of inclusion. Eight pacients from the Slovak centre were included (all female, 7 JDM, 1 JPM), all of whom were followed up at the time of inclusion. In Czech patients, the diagnosis of IIM was established at the median age 7.7 (range 1.2-15.8) years, the Slovak patients were slightly younger (6.8; 1.1-15.0 years) at diagnosis. In the entire cohort, muscle (95%) and skin (88%, 100% for JDM) disease were most frequent, followed by constitutional (68%) and joint manifestations (28%). The concentration of at least one muscle enzyme (AST, ALT, LD or CPK) was elevated in 72% of patients, in up to 24% the elevation was only mild (up to 2-3 times the upper limit of normal). Magnetic resonance imaging of muscles (sensitivity 80%) and nailfold capillaroscopy (sensitivity 87%) proved to be useful diagnostic tools in our cohort. All patients (100%) were treated with glucocorticoids and the majority (96%) also with methotrexate with good results: muscle strength, as measured by standardized tests, improved significantly, quality of life was good and permanent damage was mild. However, long-term complications developed in a significant number of patients: lipoatrophy (n=8), contractures (n=8), calcinosis (n=10) and growth retardation (n=6). During follow-up (median time of follow up 3.3, range 0.2–12 years) there was no patient with a fatal outcome. Among Slovak patients, some cases with significant diagnostic delay were noted (median 0.5; range 0.1-9.0 vs. median 0.3; range 0.1-1.5 years in Czech patients). Conclusion: Demographic characteristics, clinical manifestation, treatment and outcomes in Czech and Slovak children with JDM and JPM were comparable to published cohorts. Despite adequate treatment, complications were frequent. Diagnostic delay in some cases may have contributed to their development.

• MeSH
• dermatomyozitida * diagnóza   patologie   terapie   MeSH
• dítě MeSH
• klinické laboratorní techniky metody   MeSH
• lidé MeSH
• myozitida * diagnóza   patologie   terapie   MeSH
• polymyozitida * diagnóza   patologie   terapie   MeSH
• retrospektivní studie MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Slovenská republika MeSH

Termín idiopatické zánětlivé myopatie (IIM, Idiopathic Inflammatory Myopathies) v dětském věku je v posledních letech používán pro označení skupiny chorob, charakterizovaných chronickým zánětem kosterní svaloviny, jehož příčina je neznámá. Zahrnuje dvě nejčastější klinickopatologické jednotky, juvenilní dermatomyozitídu (JDM) a polymyozitídu (JPM), ale také řadu vzácných zánětlivých chorob postihujících kosterní svalstvo. Juvenilní dermatomyozitída (JDM) je nejčastější idiopatickou zánětlivou myopatií v dětském věku. U dětí se vyskytuje 10-20 krát častěji než polymyozitída (JPM).[1] Pro obě tato onemocnění je charakteristická chronická, progredující proximální svalová slabost, v případě JDM provázená typickými kožními projevy (viz dále) a generalizovanou vaskulopatií. V období před zavedením kortikoterapie byla úmrtnost na toto onemocnění až 30%. V současné době mortalita JDM výrazně klesla, stále však dosahuje relativně vysoké hranice 5-10%.[2]

• MeSH
• dermatomyozitida diagnóza   etiologie   MeSH
• diferenciální diagnóza MeSH
• dítě MeSH
• farmakoterapie metody   MeSH
• lidé MeSH
• nemoci svalů diagnóza   etiologie   terapie   MeSH
• polymyozitida diagnóza   etiologie   MeSH
• příznaky a symptomy MeSH
• prognóza MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• přehledy MeSH

OBJECTIVES: The 2016 ACR-EULAR Response Criteria for JDM was developed as a composite measure with differential weights of six core set measures (CSMs) to calculate a Total Improvement Score (TIS). We assessed the contribution of each CSM, representation of muscle-related and patient-reported CSMs towards improvement, and frequency of CSM worsening across myositis response criteria (MRC) categories in validation of MRC. METHODS: Data from JDM patients in the Rituximab in Myositis trial (n = 48), PRINTO JDM trial (n = 139), and consensus patient profiles (n = 273) were included. Observed vs expected CSM contributions were compared using Sign test. Characteristics of MRC categories were compared by Wilcoxon tests with Bonferroni adjustment. Spearman correlation of changes in TIS and individual CSMs were examined. Agreement between physician-assessed change and MRC categories was evaluated by weighted Cohen's kappa. RESULTS: Of 457 JDM patients with IMACS CSMs and 380 with PRINTO CSMs, 9-13% had minimal, 19-23% had moderate and 41-50% had major improvement. The number of improved and absolute percentage change of CSMs increased by MRC improvement level. Patients with minimal improvement by MRC had a median of 0-1 CSM worsened, and those with moderate/major improvement had a median of zero worsening CSMs. Of patients improved by MRC, 94-95% had improvement in muscle strength and 93-95% had improvement in ≥1 patient-reported CSM. IMACS and PRINTO CSMs performed similarly. Physician-rated change and MRC improvement categories had moderate-to-substantial agreement (Kappa 0.5-0.7). CONCLUSION: The ACR-EULAR MRC perform consistently across multiple studies, supporting its further use as an efficacy end point in JDM trials.

• MeSH
• dermatomyozitida * farmakoterapie   MeSH
• konsensus MeSH
• lidé MeSH
• myozitida * farmakoterapie   MeSH
• rituximab terapeutické užití   MeSH
• svalová síla MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Intramural MeSH

BACKGROUND: In 2012, a European initiative called Single Hub and Access point for pediatric Rheumatology in Europe (SHARE) was launched to optimise and disseminate diagnostic and management regimens in Europe for children and young adults with rheumatic diseases. Juvenile dermatomyositis (JDM) is a rare disease within the group of paediatric rheumatic diseases (PRDs) and can lead to significant morbidity. Evidence-based guidelines are sparse and management is mostly based on physicians' experience. Consequently, treatment regimens differ throughout Europe. OBJECTIVES: To provide recommendations for diagnosis and treatment of JDM. METHODS: Recommendations were developed by an evidence-informed consensus process using the European League Against Rheumatism standard operating procedures. A committee was constituted, consisting of 19 experienced paediatric rheumatologists and 2 experts in paediatric exercise physiology and physical therapy, mainly from Europe. Recommendations derived from a validated systematic literature review were evaluated by an online survey and subsequently discussed at two consensus meetings using nominal group technique. Recommendations were accepted if >80% agreement was reached. RESULTS: In total, 7 overarching principles, 33 recommendations on diagnosis and 19 recommendations on therapy were accepted with >80% agreement among experts. Topics covered include assessment of skin, muscle and major organ involvement and suggested treatment pathways. CONCLUSIONS: The SHARE initiative aims to identify best practices for treatment of patients suffering from PRD. Within this remit, recommendations for the diagnosis and treatment of JDM have been formulated by an evidence-informed consensus process to produce a standard of care for patients with JDM throughout Europe.

• MeSH
• cyklosporin terapeutické užití   MeSH
• dermatomyozitida diagnóza   terapie   MeSH
• glukokortikoidy terapeutické užití   MeSH
• imunosupresiva terapeutické užití   MeSH
• kyselina mykofenolová terapeutické užití   MeSH
• lidé MeSH
• medicína založená na důkazech MeSH
• methotrexát terapeutické užití   MeSH
• prednisolon terapeutické užití   MeSH
• přípravky chránící proti slunci terapeutické užití   MeSH
• rituximab terapeutické užití   MeSH
• směrnice pro lékařskou praxi jako téma * MeSH
• společnosti lékařské MeSH
• terapie cvičením * MeSH
• týmová péče o pacienty organizace a řízení   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• konsensus - konference MeSH
• přehledy MeSH
• Geografické názvy
• Evropa MeSH

OBJECTIVES: The idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of rare autoimmune diseases characterised by muscle weakness and extramuscular manifestations such as skin rashes and interstitial lung disease. We genotyped 2566 IIM cases of Caucasian descent using the Immunochip; a custom array covering 186 established autoimmune susceptibility loci. The cohort was predominantly comprised of patients with dermatomyositis (DM, n=879), juvenile DM (JDM, n=481), polymyositis (PM, n=931) and inclusion body myositis (n=252) collected from 14 countries through the Myositis Genetics Consortium. RESULTS: The human leucocyte antigen (HLA) and PTPN22 regions reached genome-wide significance (p<5×10(-8)). Nine regions were associated at a significance level of p<2.25×10(-5), including UBE2L3, CD28 and TRAF6, with evidence of independent effects within STAT4. Analysis of clinical subgroups revealed distinct differences between PM, and DM and JDM. PTPN22 was associated at genome-wide significance with PM, but not DM and JDM, suggesting this effect is driven by PM. Additional suggestive associations including IL18R1 and RGS1 in PM and GSDMB in DM were identified. HLA imputation confirmed that alleles HLA-DRB1*03:01 and HLA-B*08:01 of the 8.1 ancestral haplotype (8.1AH) are most strongly associated with IIM, and provides evidence that amino acids within the HLA, such as HLA-DQB1 position 57 in DM, may explain part of the risk in this locus. Associations with alleles outside the 8.1AH reveal differences between PM, DM and JDM. CONCLUSIONS: This work represents the largest IIM genetic study to date, reveals new insights into the genetic architecture of these rare diseases and suggests different predominating pathophysiology in different clinical subgroups.

• MeSH
• alely MeSH
• autoimunita genetika   MeSH
• celogenomová asociační studie MeSH
• dermatomyozitida genetika   MeSH
• genetická predispozice k nemoci MeSH
• genotyp MeSH
• HLA antigeny genetika   MeSH
• jednonukleotidový polymorfismus MeSH
• lidé MeSH
• lokus kvantitativního znaku MeSH
• myozitida genetika   imunologie   MeSH
• polymyozitida genetika   MeSH
• rizikové faktory MeSH
• studie případů a kontrol MeSH
• tyrosinfosfatasa nereceptorového typu 22 genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• multicentrická studie MeSH

OBJECTIVES: To develop and validate the cut-offs in the Juvenile DermatoMyositis Activity Index (JDMAI) to distinguish the states of inactive disease (ID), low disease activity (LDA), moderate disease activity (MDA) and high disease activity (HDA) in children with juvenile dermatomyositis (JDM). METHODS: For cut-off definition, data from 139 patients included in a randomised clinical trial were used. Among the six versions of the JDMAI, JDMA1 (score range 0-40) and JDMAI2 (score range 0-39) were selected. Optimal cut-offs were determined against external criteria by calculating different percentiles of score distribution and through receiver operating characteristic curve analysis. External criteria included the modified Pediatric Rheumatology International Trials Organization (PRINTO) criteria for clinically ID in JDM (for ID) and PRINTO levels of improvement in the clinical trial (for LDA and HDA). MDA cut-offs were set at the score interval between LDA and HDA cut-offs. Cut-off validation was conducted by assessing construct and discriminative ability in two cohorts including a total of 488 JDM patients. RESULTS: The calculated JDMAI1 cut-offs were ≤2.4 for ID, ≤6.6 for LDA, 6.7-11 for MDA and >11 for HDA. The calculated JDMAI2 cut-offs were ≤5.2 for ID, ≤8.5 for LDA, 8.6-11.3 for MDA and >11.3 for HDA. The cut-offs discriminated strongly among disease activity states defined subjectively by caring physicians and parents, parents' satisfaction or non-satisfaction with illness outcome, levels of pain, fatigue, physical functional impairment and physical well-being. CONCLUSIONS: Both JDMAI1 and JDMAI2 cut-offs revealed good metrologic properties in validation analyses and are, therefore, suited for application in clinical practice and research.

• MeSH
• dermatomyozitida * diagnóza   MeSH
• dítě MeSH
• lékaři * MeSH
• lidé MeSH
• randomizované kontrolované studie jako téma MeSH
• revmatologie * MeSH
• ROC křivka MeSH
• stupeň závažnosti nemoci MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

Systémová onemocnění pojiva jsou chronické zánětlivé choroby s rozmanitými klinickými projevy. I když jsou v dětském věku vzácná, jejich zdravotní dopad může být závažný. Včasná diagnóza a adekvátní léčba jsou významnými příznivými prognostickými faktory. Mezi hlavní představitele patří systémový lupus erythematosus (SLE) a zánětlivé myopatie, zejména dermatomyositida (JDM). SLE je prototypem autoimunního multisystémového onemocnění. Mezi jeho nejzávažnější projevy patří glomerulonefritida a neuropsychiatrický lupus. Úvodními příznaky bývají teploty, únava, fotosenzitivní vyrážka a artritida, vysoká sedimentace a cytopenie. Chronický zánět často s výraznou složkou vaskulopatie u JDM postihuje zejména kosterní svalovinu a kůži. Progrese proximální svalové slabosti může vést k respirační insuficienci. Principy terapie těchto chorob jsou diskutovány.

Systemic connective tissue diseases are characterised by chronic inflammation and variable clinical manifestations. Despite their rarity in childhood their health impact may be serious. Timely diagnosis and early appropriate therapy are important favourable prognostic factors. Systemic lupus erythematosus (SLE) and inflammatory myopathies, namely juvenile dermatomyositis, are main representatives. SLE is a typical autoimmune multisystem disease where glomerulonephritis and neuropsychiatric lupus belong to the most serious manifestations. At disease onset fevers, fatigue, photosensitive rash and arthritis together with high sedimentation rate and cytopenia are most common. Proximal skeletal muscles and skin are the main target for chronic inflammation and often prominent vasculopathy in juvenile dermatomyositis. Progression of muscle weakness may cause respiratory insuficiency. Therapy principles are further discussed.

• MeSH
• dermatomyozitida diagnóza   terapie   MeSH
• diferenciální diagnóza MeSH
• dítě MeSH
• kožní manifestace MeSH
• lidé MeSH
• myasthenia gravis diagnóza   MeSH
• nemoci novorozenců diagnóza   klasifikace   terapie   MeSH
• polyneuropatie diagnóza   etiologie   MeSH
• rehabilitace metody   MeSH
• spinální svalové atrofie v dětství diagnóza   MeSH
• svalové dystrofie diagnóza   MeSH
• systémový lupus erythematodes diagnóza   komplikace   terapie   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• Publikační typ
• přehledy MeSH

Publikace je zaměřená na dětskou revmatologii, zejména na diagnostiku a terapii. Kniha má obecnou a praktickou část. Určeno nemocničním pediatrům, dětským chirurgům, ortopedům, oftalmologům a specialistům, kteří mají ve své péči dítě s revmatickým onemocněním.

• MeSH
• artritida diagnóza   terapie   MeSH
• diagnostické techniky a postupy MeSH
• dítě MeSH
• klouby patologie   MeSH
• nemoci kloubů diagnóza   terapie   MeSH
• terapie MeSH
• Check Tag
• dítě MeSH

• Konspekt
• Pediatrie
• NLK Obory
• pediatrie
• revmatologie
• NLK Publikační typ
• kolektivní monografie

Objective: The objective was to describe the methodology used to develop new response criteria for adult DM/PM and JDM. Methods: Patient profiles from prospective natural history data and clinical trials were rated by myositis specialists to develop consensus gold-standard ratings of minimal, moderate and major improvement. Experts completed a survey regarding clinically meaningful improvement in the core set measures (CSM) and a conjoint-analysis survey (using 1000Minds software) to derive relative weights of CSM and candidate definitions. Six types of candidate definitions for response criteria were derived using survey results, logistic regression, conjoint analysis, application of conjoint-analysis weights to CSM and published definitions. Sensitivity, specificity and area under the curve were defined for candidate criteria using consensus patient profile data, and selected definitions were validated using clinical trial data. Results: Myositis specialists defined the degree of clinically meaningful improvement in CSM for minimal, moderate and major improvement. The conjoint-analysis survey established the relative weights of CSM, with muscle strength and Physician Global Activity as most important. Many candidate definitions showed excellent sensitivity, specificity and area under the curve in the consensus profiles. Trial validation showed that a number of candidate criteria differentiated between treatment groups. Top candidate criteria definitions were presented at the consensus conference. Conclusion: Consensus methodology, with definitions tested on patient profiles and validated using clinical trials, led to 18 definitions for adult PM/DM and 14 for JDM as excellent candidates for consideration in the final consensus on new response criteria for myositis.

• MeSH
• dermatomyozitida terapie   MeSH
• lidé MeSH
• logistické modely MeSH
• minimální klinicky významný rozdíl MeSH
• plocha pod křivkou MeSH
• polymyozitida terapie   MeSH
• výsledek terapie MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• konsensus - konference MeSH
• práce podpořená grantem MeSH

• MeSH
• dítě MeSH
• revmatologie MeSH
• Check Tag
• dítě MeSH
• Publikační typ
• abstrakty MeSH
• kongresy MeSH
• sborníky MeSH

• Konspekt
• Patologie. Klinická medicína
• NLK Obory
• revmatologie